✦ LIBER ✦

Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype

✍ Scribed by Vijay S. Tonk; Golder N. Wilson; Svetlana A. Yatsenko; Pawel Stankiewicz; James R. Lupski; Robert C. Schutt; J.K. Northup; Gopalrao V.N. Velagaleti

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 185 KB
Volume: 139A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30958

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical and molecular cytogenetic chara

Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)

✍ Marzena Gajecka; Reem Saadeh; Katherine L. Mackay; Caron D. Glotzbach; Krystyna 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 314 KB 👁 2 views

Refined FISH characterization of a de no

Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome

✍ Finelli, Palma ;Giardino, Daniela ;Russo, Silvia ;Gottardi, Giulietta ;Cogliati, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB 👁 3 views

Cytogenetic and molecular analysis of a

Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22

✍ Christophe Rosty; Martine Peter; Jessica Zucman; Pierre Validire; Olivier Delatt 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 281 KB 👁 2 views

Malignant rhabdoid tumors are rare and aggressive neoplasms of childhood, occurring in the kidney or in various extrarenal locations. Most cytogenetic studies of these tumors have shown the frequent involvement of chromosome 22, including translocations and/or deletions, with a critical region for a

Cytogenetic and array CGH characterizati

Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation

✍ Emily Chen; Elise Obolensky; Katherine A. Rauen; Lisa G. Shaffer; Xu Li 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB 👁 2 views